Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Autor: Simonetta Gerevini, Mauro Monforte, M. Gros, Sabrina Sacconi, Giancarlo Deidda, Jordi Díaz-Manera, Enzo Ricci, Lara Cristiano, Volker Straub, G. Giacomucci, C. Marini Bettolo, Giorgio Tasca, Lorenzo Maggi, B.G.M. van Engelen, Emiliano Giardina, Jana Haberlová, Pilar Camaño, Tommaso Tartaglione, Karlien Mul, John Vissing, Julia R. Dahlqvist, Patrizia Calandra, R. Fernandez Torron
Rok vydání: 2020
Předmět:
Zdroj: EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
European Journal of Neurology, 27, 12, pp. 2604-2615
European Journal of Neurology, 27, 2604-2615
European journal of neurology
27 (2020): 2604–2615. doi:10.1111/ene.14446
info:cnr-pdr/source/autori:Giacomucci G.; Monforte M.; Diaz-Manera J.; Mul K.; Fernandez Torron R.; Maggi L.; Marini Bettolo C.; Dahlqvist J.R.; Haberlova J.; Camano P.; Gros M.; Tartaglione T.; Cristiano L.; Gerevini S.; Calandra P.; Deidda G.; Giardina E.; Sacconi S.; Straub V.; Vissing J.; Van Engelen B.; Ricci E.; Tasca G./titolo:Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging/doi:10.1111%2Fene.14446/rivista:European journal of neurology (Print)/anno:2020/pagina_da:2604/pagina_a:2615/intervallo_pagine:2604–2615/volume:27
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
ISSN: 1351-5101
DOI: 10.1111/ene.14446
Popis: Contains fulltext : 229735.pdf (Publisher’s version ) (Closed access) BACKGROUND AND PURPOSE: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data. METHODS: Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. T1-weighted and short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle oedema. RESULTS: The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis, was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. CONCLUSION: This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.
Databáze: OpenAIRE
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